{
    "disease_id": "DOID:0060638",
    "recommended_name": {
        "id": "DOID:0060638",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060638",
        "name": "neonatal diabetes mellitus with congenital hypothyroidism",
        "description": "A neonatal diabetes that is characterized by intrauterine growth retardation, hypothyroidism and onset of nonimmune diabetes mellitus within the first few weeks of life, and that has_material_basis_in homozygous or compound heterozygous mutations in the GLIS3 gene on chromosome 9p24."
    },
    "synonyms": [
        {
            "id": "DOID:0060638",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060638",
            "name": "NDH syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012436",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012436",
            "name": "neonatal diabetes mellitus with congenital hypothyroidism",
            "description": "A rare genetic disease characterized by intrauterine growth retardation, permanent neonatal diabetes mellitus, and congenital hypothyroidism. Additional manifestations include congenital glaucoma, hepatic disease (hepatitis, fibrosis, and cirrhosis), polycystic kidneys, exocrine pancreatic dysfunction, sensorineural hearing impairment, developmental delay, and mild facial dysmorphism (such as flat nasal bridge, epicanthal folds, long philtrum, and low-set ears), among others"
        },
        {
            "id": "MONDO:0012436",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012436",
            "name": "NDH syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012436",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012436",
            "name": "neonatal diabetes mellitus with congenital hypothyroidism",
            "description": ""
        },
        {
            "id": "MONDO:0012436",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012436",
            "name": "NDH",
            "description": ""
        },
        {
            "id": "MIM:610199",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610199",
            "name": "Diabetes mellitus, neonatal, with congenital hypothyroidism",
            "description": "Diabetes mellitus, neonatal, with congenital hypothyroidism"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060638"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060638",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060638",
            "categories": []
        },
        {
            "id": "MONDO:0012436",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012436",
            "categories": []
        },
        {
            "id": "MIM:610199",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610199",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M6Z1B7-1",
            "uniprot_ac": "A0A8M6Z1B7",
            "uniprot_id": "A0A8M6Z1B7_DANRE",
            "refseq_ac": "XP_017213470",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger protein GLIS3 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein GLIS3 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "glis3",
                    "type": "recommended"
                },
                {
                    "name": "glis3",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa55a05",
                    "type": "synonym"
                },
                {
                    "name": "zgc:158249",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M6Z1B7-1",
            "evidence": [
                {
                    "id": "0060638",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060638"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6XP49-1",
            "uniprot_ac": "Q6XP49",
            "uniprot_id": "GLIS3_MOUSE",
            "refseq_ac": "XP_006527048",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger protein GLIS3",
                    "type": "recommended"
                },
                {
                    "name": "GLI-similar 3",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein GLIS3 isoform X2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Glis3",
                    "type": "recommended"
                },
                {
                    "name": "4833409N03Rik",
                    "type": "synonym"
                },
                {
                    "name": "E330013K21Rik",
                    "type": "synonym"
                },
                {
                    "name": "Glis3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6XP49-1",
            "evidence": [
                {
                    "id": "0060638",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060638"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8NEA6-1",
            "uniprot_ac": "Q8NEA6",
            "uniprot_id": "GLIS3_HUMAN",
            "refseq_ac": "NP_001035878",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger protein GLIS3",
                    "type": "recommended"
                },
                {
                    "name": "GLI-similar 3",
                    "type": "synonym"
                },
                {
                    "name": "OK/KNS-cl.4",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger protein 515",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein 515",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein GLIS3 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein GLIS3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GLIS3",
                    "type": "recommended"
                },
                {
                    "name": "GLIS3",
                    "type": "synonym"
                },
                {
                    "name": "NDH",
                    "type": "synonym"
                },
                {
                    "name": "ZNF515",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8NEA6-1",
            "evidence": [
                {
                    "id": "610199",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610199"
                },
                {
                    "id": "0060638",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060638"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LU03-1",
            "uniprot_ac": "A0ABK0LU03",
            "uniprot_id": "A0ABK0LU03_RAT",
            "refseq_ac": "NP_001419411",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "GLIS family zinc finger 3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "GLIS family zinc finger 3",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein GLIS3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Glis3",
                    "type": "recommended"
                },
                {
                    "name": "Glis3",
                    "type": "synonym"
                },
                {
                    "name": "RGD1565505",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LU03-1",
            "evidence": [
                {
                    "id": "0060638",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060638"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060638"
}